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MBTPS2 membrane bound transcription factor peptidase, site 2 [ Homo sapiens (human) ]

Gene ID: 51360, updated on 24-Nov-2020

Summary

Official Symbol
MBTPS2provided by HGNC
Official Full Name
membrane bound transcription factor peptidase, site 2provided by HGNC
Primary source
HGNC:HGNC:15455
See related
Ensembl:ENSG00000012174 MIM:300294
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
S2P; IFAP; KFSD; OI19; KFSDX; OLMSX; BRESEK
Summary
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
Expression
Ubiquitous expression in adrenal (RPKM 6.7), ovary (RPKM 6.4) and 25 other tissues See more
Orthologs

Genomic context

See MBTPS2 in Genome Data Viewer
Location:
Xp22.12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (21839617..21885423)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (21857656..21916427)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene kelch like family member 34 Neighboring gene small muscle protein X-linked Neighboring gene YY2 transcription factor Neighboring gene CYTH1 pseudogene 1 Neighboring gene spermine synthase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity EXP
Inferred from Experiment
more info
PubMed 
metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
membrane-bound transcription factor site-2 protease
Names
SREBPs intramembrane protease
endopeptidase S2P
keratosis follicularis spinulosa decalvans
membrane-bound transcription factor protease, site 2
site-2 protease
sterol regulatory element-binding proteins intramembrane protease
NP_056968.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012797.2 RefSeqGene

    Range
    5080..50886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015884.4NP_056968.1  membrane-bound transcription factor site-2 protease

    See identical proteins and their annotated locations for NP_056968.1

    Status: REVIEWED

    Source sequence(s)
    AF019612, AK056736, AK307143, AW204540, BX489533
    Consensus CDS
    CCDS14201.1
    UniProtKB/Swiss-Prot
    O43462
    Related
    ENSP00000368798.5, ENST00000379484.10
    Conserved Domains (3) summary
    cd05709
    Location:419508
    S2P-M50; Site-2 protease (S2P) class of zinc metalloproteases (MEROPS family M50) cleaves transmembrane domains of substrate proteins, regulating intramembrane proteolysis (RIP) of diverse signal transduction mechanisms. Members of this family use proteolytic ...
    cd06162
    Location:18229
    S2P-M50_PDZ_SREBP; Sterol regulatory element-binding protein (SREBP) Site-2 protease (S2P), a zinc metalloprotease (MEROPS family M50A), regulates intramembrane proteolysis (RIP) of SREBP and is part of a signal transduction mechanism involved in sterol and lipid ...
    cl00117
    Location:255299
    PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    21839617..21885423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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